A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984020



Internal ID12630862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187171220..187276963hg38UCSC Ensembl
Innerchr2:188035947..188141690hg19UCSC Ensembl
Innerchr2:187744192..187849935hg18UCSC Ensembl
Innerchr2:187861453..187967196hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38105744
hg19105744
hg18105744
hg17105744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751839
Supporting Variants
SamplesBEC_745
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984020
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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